Incidental Mutation 'IGL00774:Mindy2'
ID |
277921 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mindy2
|
Ensembl Gene |
ENSMUSG00000042444 |
Gene Name |
MINDY lysine 48 deubiquitinase 2 |
Synonyms |
Fam63b, B230380D07Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
IGL00774
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
70506296-70564456 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70538315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 340
(D340G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037035
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049031]
[ENSMUST00000213380]
|
AlphaFold |
Q6PDI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049031
AA Change: D340G
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000037035 Gene: ENSMUSG00000042444 AA Change: D340G
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
41 |
N/A |
INTRINSIC |
low complexity region
|
79 |
86 |
N/A |
INTRINSIC |
low complexity region
|
126 |
173 |
N/A |
INTRINSIC |
low complexity region
|
186 |
195 |
N/A |
INTRINSIC |
Pfam:DUF544
|
250 |
373 |
6.9e-42 |
PFAM |
low complexity region
|
498 |
508 |
N/A |
INTRINSIC |
low complexity region
|
535 |
570 |
N/A |
INTRINSIC |
low complexity region
|
578 |
595 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213380
AA Change: D340G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214293
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
G |
A |
4: 86,306,776 (GRCm39) |
A1397T |
possibly damaging |
Het |
Aldob |
A |
G |
4: 49,536,843 (GRCm39) |
S349P |
probably benign |
Het |
Cd2 |
A |
T |
3: 101,190,345 (GRCm39) |
|
probably null |
Het |
Cmtm2a |
A |
G |
8: 105,019,562 (GRCm39) |
S43P |
probably damaging |
Het |
Cts6 |
T |
C |
13: 61,346,153 (GRCm39) |
|
probably benign |
Het |
Cyp4a10 |
A |
T |
4: 115,389,735 (GRCm39) |
I447F |
probably damaging |
Het |
E2f3 |
A |
T |
13: 30,102,687 (GRCm39) |
D68E |
probably damaging |
Het |
Ect2 |
G |
A |
3: 27,152,592 (GRCm39) |
R869W |
probably damaging |
Het |
Eml1 |
A |
G |
12: 108,480,774 (GRCm39) |
|
probably null |
Het |
Fundc1 |
T |
A |
X: 17,424,252 (GRCm39) |
|
probably null |
Het |
Gabrb1 |
G |
T |
5: 72,265,789 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
G |
15: 91,686,036 (GRCm39) |
|
probably benign |
Het |
Map3k2 |
C |
T |
18: 32,361,292 (GRCm39) |
P584L |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,652,124 (GRCm39) |
D877G |
probably damaging |
Het |
Nol9 |
T |
C |
4: 152,136,472 (GRCm39) |
S515P |
probably benign |
Het |
Osgepl1 |
A |
G |
1: 53,359,405 (GRCm39) |
I305V |
probably benign |
Het |
Pign |
A |
G |
1: 105,525,481 (GRCm39) |
V449A |
probably benign |
Het |
Rad54b |
G |
A |
4: 11,593,765 (GRCm39) |
R131K |
probably benign |
Het |
Rgl3 |
A |
T |
9: 21,899,018 (GRCm39) |
|
probably benign |
Het |
Scn2a |
A |
G |
2: 65,566,197 (GRCm39) |
D1407G |
probably damaging |
Het |
Sf3b3 |
A |
T |
8: 111,544,270 (GRCm39) |
I790N |
probably damaging |
Het |
Srebf1 |
C |
T |
11: 60,095,965 (GRCm39) |
R358Q |
probably damaging |
Het |
Tmem18 |
A |
G |
12: 30,638,720 (GRCm39) |
R133G |
unknown |
Het |
Tnfrsf11b |
T |
G |
15: 54,117,468 (GRCm39) |
R262S |
probably benign |
Het |
Tsc1 |
A |
T |
2: 28,555,023 (GRCm39) |
H171L |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,006,785 (GRCm39) |
T1157A |
probably benign |
Het |
Wdcp |
A |
G |
12: 4,905,303 (GRCm39) |
E608G |
probably damaging |
Het |
Zbtb40 |
T |
G |
4: 136,721,835 (GRCm39) |
H848P |
probably damaging |
Het |
|
Other mutations in Mindy2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00767:Mindy2
|
APN |
9 |
70,541,285 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00770:Mindy2
|
APN |
9 |
70,538,315 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01889:Mindy2
|
APN |
9 |
70,538,444 (GRCm39) |
splice site |
probably benign |
|
IGL02860:Mindy2
|
APN |
9 |
70,563,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R0100:Mindy2
|
UTSW |
9 |
70,514,731 (GRCm39) |
splice site |
probably benign |
|
R0563:Mindy2
|
UTSW |
9 |
70,538,334 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1109:Mindy2
|
UTSW |
9 |
70,538,361 (GRCm39) |
nonsense |
probably null |
|
R1446:Mindy2
|
UTSW |
9 |
70,514,738 (GRCm39) |
critical splice donor site |
probably null |
|
R1736:Mindy2
|
UTSW |
9 |
70,538,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Mindy2
|
UTSW |
9 |
70,563,874 (GRCm39) |
missense |
probably benign |
0.01 |
R4091:Mindy2
|
UTSW |
9 |
70,541,342 (GRCm39) |
missense |
probably damaging |
0.98 |
R4290:Mindy2
|
UTSW |
9 |
70,538,376 (GRCm39) |
missense |
probably damaging |
1.00 |
R4626:Mindy2
|
UTSW |
9 |
70,534,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R4791:Mindy2
|
UTSW |
9 |
70,541,283 (GRCm39) |
splice site |
probably null |
|
R4973:Mindy2
|
UTSW |
9 |
70,512,453 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6077:Mindy2
|
UTSW |
9 |
70,538,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R6237:Mindy2
|
UTSW |
9 |
70,512,480 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6872:Mindy2
|
UTSW |
9 |
70,524,044 (GRCm39) |
critical splice donor site |
probably null |
|
R7307:Mindy2
|
UTSW |
9 |
70,518,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7521:Mindy2
|
UTSW |
9 |
70,514,792 (GRCm39) |
missense |
probably benign |
0.18 |
R7638:Mindy2
|
UTSW |
9 |
70,524,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R9541:Mindy2
|
UTSW |
9 |
70,512,508 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2015-04-16 |